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92907008: Congenital abnormal shape of digit (disorder)

Status: current, 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
153626015 Congenital abnormal shape of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
836529014 Congenital abnormal shape of digit (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4704291000241117 déformation congénitale d'un doigt/orteil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

329 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital abnormal shape of digit Is a Congenital anomaly of limb false Inferred relationship Some
Congenital abnormal shape of digit Occurrence Congenital false Inferred relationship Some
Congenital abnormal shape of digit Finding site Musculoskeletal structure of limb false Inferred relationship Some
Congenital abnormal shape of digit Finding site Digit structure true Inferred relationship Some 1
Congenital abnormal shape of digit Associated morphology Congenital abnormal shape false Inferred relationship Some 1
Congenital abnormal shape of digit Associated morphology anomalie du développement false Inferred relationship Some
Congenital abnormal shape of digit Is a Disorder of digit false Inferred relationship Some
Congenital abnormal shape of digit Is a Congenital malformation false Inferred relationship Some
Congenital abnormal shape of digit Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Congenital abnormal shape of digit Is a Perodactylia false Inferred relationship Some
Congenital abnormal shape of digit Finding site Digit structure false Inferred relationship Some 1
Congenital abnormal shape of digit Associated morphology Congenital abnormal shape false Inferred relationship Some 1
Congenital abnormal shape of digit Occurrence Congenital false Inferred relationship Some 2
Congenital abnormal shape of digit Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Congenital abnormal shape of digit Associated morphology Congenital abnormal shape false Inferred relationship Some 2
Congenital abnormal shape of digit Finding site Digit structure false Inferred relationship Some 2
Congenital abnormal shape of digit Occurrence Congenital true Inferred relationship Some 1
Congenital abnormal shape of digit Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital abnormal shape of digit Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital macrodactyly (disorder) Is a False Congenital abnormal shape of digit Inferred relationship Some
Arachnodactyly Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal shape of forepaw phalanx Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal shape of hindpaw phalanx Is a False Congenital abnormal shape of digit Inferred relationship Some
Microdactyly Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital koilonychia Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital clubnail Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital hammer toe Is a False Congenital abnormal shape of digit Inferred relationship Some
Deformity of toe due to amniotic band (disorder) Is a False Congenital abnormal shape of digit Inferred relationship Some
Deformity of digit of hand due to amniotic band (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital clinodactyly Is a True Congenital abnormal shape of digit Inferred relationship Some
Thumb in palm deformity Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital koilonychia Is a True Congenital abnormal shape of digit Inferred relationship Some
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Is a False Congenital abnormal shape of digit Inferred relationship Some
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Is a False Congenital abnormal shape of digit Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Is a False Congenital abnormal shape of digit Inferred relationship Some
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. Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital mallet toe (disorder) Is a False Congenital abnormal shape of digit Inferred relationship Some
Clinodactyly of toe (disorder) Is a False Congenital abnormal shape of digit Inferred relationship Some
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Is a False Congenital abnormal shape of digit Inferred relationship Some
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital deformity of toe (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Camptodactyly Is a True Congenital abnormal shape of digit Inferred relationship Some
Brachydactyly Is a False Congenital abnormal shape of digit Inferred relationship Some
Bifid digit Is a True Congenital abnormal shape of digit Inferred relationship Some
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Is a True Congenital abnormal shape of digit Inferred relationship Some
Bilateral congenital deformity fingers Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital pterygium of nail (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal bullet shape of phalanx of foot (disorder) Is a False Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal bullet shape of phalanx of hand (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of hand (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of toe (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal slender shape of distal phalanx of finger Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal rhomboid shape of distal phalanx of little finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal rhomboid shape of middle phalanx of little finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal rhomboid shape of proximal phalanx of little finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal slender shape of middle phalanx of finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal slender shape of proximal phalanx of finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal triangular shape of epiphysis of phalanx of hand Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal triangular shape of epiphysis of phalanx of toe (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal triangular shape of phalanx of hand (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital abnormal triangular shape of phalanx of toe Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital clinodactyly of ring finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital clinodactyly of middle finger Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital clinodactyly of index finger Is a True Congenital abnormal shape of digit Inferred relationship Some
Congenital clinodactyly of distal phalanx of little finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Abnormally short digit Is a True Congenital abnormal shape of digit Inferred relationship Some
Abnormal tapering of phalanx of foot (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some
Abnormal tapering of phalanx of finger (disorder) Is a True Congenital abnormal shape of digit Inferred relationship Some

This concept is not in any reference sets

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