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52868006: Oral-facial-digital syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
496463018 Orofacial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
790924016 Oral-facial-digital syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
87975013 Oral-facial-digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
87977017 Orodigitofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects false Inferred relationship Some
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Disorder of soft tissue of limb false Inferred relationship Some
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 5
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 1
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 4
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) dysplasie false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of limb false Inferred relationship Some
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia true Inferred relationship Some
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Congenital abnormality of oral cavity true Inferred relationship Some
Oral-facial-digital syndrome (disorder) est un(e) (attribut) Congenital anomaly of digit (disorder) true Inferred relationship Some
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth true Inferred relationship Some 2
Oral-facial-digital syndrome (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group
Oral-facial-digital syndrome with short stature and brachymesophalangia est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Mohr syndrome est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Orofacial-digital syndrome III est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Orofacial-digital syndrome IV est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 11 (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Joubert syndrome with orofaciodigital defect (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
syndrome oro-facio-digital type 5 est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 12 est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 13 est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Oral-facial-digital syndrome (disorder) Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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