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720603002: Camptodactyly syndrome Guadalajara type 2 (disorder)

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
5402427014 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402428016 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterised by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5402427014 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402428016 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterised by 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. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412381001000116 Kamptodaktylie Guadalajara Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889161000172117 camptodactylie de Guadalajara type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889161000172117 camptodactylie de Guadalajara type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412381001000116 Kamptodaktylie Guadalajara Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly syndrome Guadalajara type 2 Is a Camptodactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Congenital abnormal shape of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly syndrome Guadalajara type 2 Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly syndrome Guadalajara type 2 Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly syndrome Guadalajara type 2 Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly syndrome Guadalajara type 2 Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly syndrome Guadalajara type 2 Associated morphology Congenital flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly syndrome Guadalajara type 2 Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly syndrome Guadalajara type 2 Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly syndrome Guadalajara type 2 Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly syndrome Guadalajara type 2 Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly syndrome Guadalajara type 2 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly syndrome Guadalajara type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly syndrome Guadalajara type 2 Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly syndrome Guadalajara type 2 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly syndrome Guadalajara type 2 Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly syndrome Guadalajara type 2 Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly syndrome Guadalajara type 2 Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly syndrome Guadalajara type 2 Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Congenital anomaly of finger false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly syndrome Guadalajara type 2 Is a Flexion deformity of hand false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Finding of musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a Camptodactyly of finger (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Finding site Musculoskeletal structure of finger (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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