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720603002: camptodactylie de Guadalajara type 2 (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
3321507019 Camptodactyly syndrome Guadalajara type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321508012 Camptodactyly syndrome Guadalajara type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
755731000241111 camptodactylie de Guadalajara type 2 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
889161000172117 camptodactylie de Guadalajara type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321509016 An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985. 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
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 2 (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Congenital anomaly of finger false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) déformation en flexion de la main false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) constatation à propos de la structure musculosquelettique d'un doigt de la main false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Camptodactyly of finger (disorder) true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of finger true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Camptodactyly false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Congenital abnormal shape of digit false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 2 (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) Congenital flexion deformity false Inferred relationship Some 6
Camptodactyly syndrome Guadalajara type 2 (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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