Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2529711019 | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2533142015 | De Sanctis-Cacchione syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2536925015 | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2536926019 | Xerodermic idiocy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | est un(e) (attribut) | Disorder of central nervous system due to xeroderma pigmentosum | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | est un(e) (attribut) | Congenital hypoplasia of gonad | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | est un(e) (attribut) | insuffisance staturale | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 1 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | Due to | xeroderma pigmentosum | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 1 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | localisation d'une constatation (attribut) | système nerveux | false | Inferred relationship | Some | ||
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 1 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | morphologie associée (attribut) | Congenital hypoplasia | false | Inferred relationship | Some | 1 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Concept inactivation indicator reference set
Description inactivation indicator reference set
POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)
FHIR