Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756900019 | Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756901015 | FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756902010 | Friedman Goodman syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756903017 | Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756904011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Café au lait spots | true | Inferred relationship | Some | ||
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | rétinite pigmentaire (trouble) | true | Inferred relationship | Some | ||
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | morphologie associée (attribut) | Pigment alteration | true | Inferred relationship | Some | 3 | |
| Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR