FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

722075004: syndrome oro-facio-digital type 10 (trouble)


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
3330478011 Orofaciodigital syndrome type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330479015 Figuera syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330481018 Orofaciodigital syndrome with fibular aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330705012 Oro-facial digital syndrome type 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330706013 Oro-facial digital syndrome type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758221000241114 syndrome oro-facio-digital type 10 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
894861000172111 syndrome oro-facio-digital type 10 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
939691000172119 OFD10 - orofaciodigital syndrome type 10 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3330707016 Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oro-facial digital syndrome type 10 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) est un(e) (attribut) Oral-facial-digital syndrome (disorder) true Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 6
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 7
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 7
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth true Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 2
Oro-facial digital syndrome type 10 (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start