Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Synonyms: TD1 Thanatophoric dwarfism type 1
This is just here as a test because I lose it
Term information
database cross reference
- ICD-10:Q77.1 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1868678 (E (Exact mapping: the two concepts are equivalent))
- OMIM:187600 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C2931282 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q77.1 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- clinical subtype
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- has_inheritance some not genetically inherited
- has_inheritance some autosomal dominant
- has_age_of_onset some antenatal
- part_of some Thanatophoric dysplasia
- has_age_of_onset some neonatal