Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3433657016 |
Hypertelorism Teebi type (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3433658014 |
Hypertelorism Teebi type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3433659018 |
Brachycephalofrontonasal dysplasia |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3433660011 |
Craniofrontonasal dysplasia Teebi type |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3433661010 |
Teebi hypertelorism syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3433662015 |
Teebi syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
7025481000146117 |
syndroom van Teebi |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7025491000146115 |
brachycefalofrontonasale dysplasie |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7025501000146113 |
craniofrontonasale dysplasie type Teebi |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12689771000146113 |
hypertelorisme Teebi-type (aandoening) |
nl |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12741141000146115 |
hypertelorisme Teebi-type |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3433663013 |
A rare genetic disease with characteristics of hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Limb features include fifth-finger clinodactyly, pes adductus, mild interdigital webbing. Urogenital features include bilateral cryptorchidism and shawl scrotum in males. Other manifestations include umbilical hernia/omphalocele and cardiac defects. Psychomotor development is normal. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |