Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1005331000172111 | syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725573015 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725574014 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725575010 | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771831000241115 | syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725576011 | A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 5 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 4 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 2 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 6 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 7 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 8 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 8 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 6 | |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR