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715471007: Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302739016 Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302740019 Mesomelic dysplasia with cleft palate and camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302742010 Reardon Hall Slaney syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302743017 This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. 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
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Skeletal system structure true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Camptodactyly true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Structure of internal part of mouth false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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