A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
Synonyms: TD
This is just here as a test because I lose it
Term information
database cross reference
- OMIM:156830 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C0039743 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q77.1 (E (Exact mapping: the two concepts are equivalent))
- OMIM:187600 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- ICD-10:Q77.1 (Specific code (The ORPHA code has its own code in the ICD10))
- OMIM:187601 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- MedDRA:10049808 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- has_inheritance some not genetically inherited
- present_in some Latin America and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 4.7
- present_in some Ireland and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 8.0
- present_in some Sweden and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.7
- present_in some Italy and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 3.5
- part_of some Primary bone dysplasia with micromelia
- present_in some Denmark and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 3.8
- has_inheritance some autosomal dominant
- has_age_of_onset some antenatal
- present_in some Europe and has_point_prevalence_range some <1 / 1 000 000
- present_in some France and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 2.8
- part_of some FGFR3-related chondrodysplasia
- has_age_of_onset some neonatal
- present_in some Europe and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 3.5
- present_in some United States and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 4.3