Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. [ Orphanet : 648 ]
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:609942 (Orphanet:648/btnt)
- ICD10CM:Q87.1 (Orphanet:648/ntbt)
- DOID:3490 (MONDO:equivalentTo)
- OMIM:613706 (Orphanet:648/btnt)
- OMIMPS:163950 (MONDO:equivalentTo)
- ICD9:759.89 (MONDO:relatedTo)
- OMIM:611553 (Orphanet:648/btnt)
- MESH:D009634 (Orphanet:648/e)
- Orphanet:648 (MONDO:equivalentTo)
- UMLS:C0028326 (Orphanet:648/e)
- OMIM:615355 (Orphanet:648/btnt)
- OMIM:605275 (Orphanet:648/btnt)
- OMIM:616564 (Orphanet:648/btnt)
- MedDRA:10029748 (Orphanet:648/e)
- OMIM:616559 (Orphanet:648/btnt)
- OMIM:613224 (Orphanet:648/btnt)
- GARD:0010955 (MONDO:equivalentTo)
- OMIM:610733 (Orphanet:648/btnt)
- NCIT:C34854 (MONDO:equivalentTo)
- SCTID:205824006 (MONDO:equivalentTo)
Subsets
ordo_malformation_syndrome, clingen
closeMatch
- http://identifiers.org/meddra/10029748
definition
- Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.
exactMatch
- http://identifiers.org/snomedct/205824006
- http://linkedlifedata.com/resource/umls/id/C0028326
- http://purl.obolibrary.org/obo/NCIT_C34854
- http://identifiers.org/mesh/D009634
- https://omim.org/phenotypicSeries/PS163950
- http://www.orpha.net/ORDO/Orphanet_648
- http://purl.obolibrary.org/obo/DOID_3490
excluded subClassOf
- http://purl.obolibrary.org/obo/MONDO_0021060
has exact synonym
- Noonan syndrome
- Noonan's syndrome
- Turner's phenotype, karyotype normal
has related synonym
- pseudo-Ullrich-Turner syndrome
- Noonan-Ehmke syndrome
- Ullrich-Noonan syndrome
id
- MONDO:0018997
narrowMatch
- http://apps.who.int/classifications/icd10/browse/2010/en#/Q87.1
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
Term relations
Subclass of:
- syndromic lymphedema
- Noonan syndrome and Noonan-related syndrome
- syndromic renal or urinary tract malformation
- malposition of external canthus
- eyelids malposition disorder
- lymphatic malformation
- neurovascular disorder
- genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- syndromic urogenital tract malformation
Related from: