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255399007: Congenital (qualifier value)

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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 7
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 8
Simple syndactyly of toes of second web space of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Simple syndactyly of toes of second web space of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of semicircular canal Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of vestibule of inner ear Occurrence True Congenital Inferred relationship Some 1
Bilateral talipes equinovarus Occurrence True Congenital Inferred relationship Some 1
Bilateral talipes equinovarus Occurrence True Congenital Inferred relationship Some 2
Bilateral talipes equinovarus Occurrence True Congenital Inferred relationship Some 3
Bilateral talipes equinovarus Occurrence True Congenital Inferred relationship Some 4
Talipes calcaneovarus of bilateral ankles and feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Talipes calcaneovarus of bilateral ankles and feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Talipes calcaneovarus of bilateral ankles and feet (disorder) Occurrence True Congenital Inferred relationship Some 3
Talipes calcaneovarus of bilateral ankles and feet (disorder) Occurrence True Congenital Inferred relationship Some 4
Bilateral spherophakia Occurrence True Congenital Inferred relationship Some 1
Bilateral spherophakia Occurrence True Congenital Inferred relationship Some 2
Distal deletion of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Occurrence True Congenital Inferred relationship Some 1
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Occurrence True Congenital Inferred relationship Some 2
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Occurrence False Congenital Inferred relationship Some 4
Congenital short ear Occurrence True Congenital Inferred relationship Some 1
Congenital retinal dysplasia caused by teratogenic substance (disorder) Occurrence True Congenital Inferred relationship Some 1
A congenital melanocytic nevus with a projected or final adult maximal diameter of less than 15 mm. Occurrence True Congenital Inferred relationship Some 1
Congenital sagittal cleft of vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Distal deletion of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 2
Dermal melanocytic hamartoma (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 12q (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 12q (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal duplication of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal duplication of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal duplication of chromosome 13 (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of biliary tract Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 1p Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 1p Occurrence True Congenital Inferred relationship Some 2
Distal duplication of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 1q (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 1q (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of internal auditory canal Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of cochlea Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral radiuses (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral radiuses (disorder) Occurrence True Congenital Inferred relationship Some 2
Calcification of umbilical cord (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral tibias Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral tibias Occurrence True Congenital Inferred relationship Some 2
Congenital absence of bilateral ulnas Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral ulnas Occurrence True Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 8 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 8 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 9 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 9 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Distal deletion of long arm of chromosome 7 Occurrence False Congenital Inferred relationship Some 2
Distal deletion of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 3
Congenital ankylosis of incudomallear articulation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital kyphosis Occurrence True Congenital Inferred relationship Some 1
Triphalangeal deformity of bilateral thumbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Triphalangeal deformity of bilateral thumbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal deletion of short arm of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of short arm of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 7q (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 7q (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 8p (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 8p (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 9p (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 9p (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 3q (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 3q (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. Occurrence True Congenital Inferred relationship Some 1
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Occurrence True Congenital Inferred relationship Some 2
Xiphopagus (disorder) Occurrence True Congenital Inferred relationship Some 3
Distal deletion of chromosome 13 (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital tibiofibular synostosis Occurrence True Congenital Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Simple syndactyly of toes of first web space of bilateral feet Occurrence True Congenital Inferred relationship Some 1
Simple syndactyly of toes of first web space of bilateral feet Occurrence True Congenital Inferred relationship Some 2
Distal deletion of short arm of chromosome 8 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal deletion of short arm of chromosome 8 (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral split foot Occurrence True Congenital Inferred relationship Some 1
Bilateral split foot Occurrence True Congenital Inferred relationship Some 2
Bilateral split foot Occurrence True Congenital Inferred relationship Some 3
Congenital split of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital split of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital split of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital teratoma of nasopharynx (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of rib Occurrence True Congenital Inferred relationship Some 1
Agenesis of lung Occurrence True Congenital Inferred relationship Some 1
Agenesis of lobe of lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of ulna Occurrence True Congenital Inferred relationship Some 1
Agenesis of vulva Occurrence True Congenital Inferred relationship Some 1

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