Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3331859010 | Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331860017 | Cutaneous mastocytosis, short stature, hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332202019 | Hennekam Beemer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332203012 | Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Mast cell abnormality (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | Mast cell | false | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Cutaneous mastocytosis (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Mast cell abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 2 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 6 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | Mast cell | true | Inferred relationship | Some | 1 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 7 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 5 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Decreased hearing | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Conductive hearing loss (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | trouble neurologique chronique | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | maladie chronique de l'oreille | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Cutaneous mastocytosis (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Hereditary white blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | évolution clinique (attribut) | chronique | true | Inferred relationship | Some | 3 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 4 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 5 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Cutaneous mastocytosis (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 8 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 9 | |
| Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR