Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
30539015 | Trichorhinophalangeal syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
745453014 | Trichorhinophalangeal syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
950061000172110 | syndrome tricho-rhino-phalangien | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Trichorhinophalangeal dysplasia type I | Is a | True | Trichorhinophalangeal syndrome | Inferred relationship | Some | |
Langer-Giedion syndrome | Is a | True | Trichorhinophalangeal syndrome | Inferred relationship | Some | |
Trichorhinophalangeal dysplasia type III (disorder) | Is a | True | Trichorhinophalangeal syndrome | Inferred relationship | Some | |
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). | Is a | True | Trichorhinophalangeal syndrome | Inferred relationship | Some |
This concept is not in any reference sets