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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
Ring chromosome Occurrence True Congenital Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly characterised by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. Occurrence True Congenital Inferred relationship Some 1
Agenesis of right hemisphere of cerebellum (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of left hemisphere of cerebellum (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral dysplastic hip Occurrence True Congenital Inferred relationship Some 2
Anomaly of umbilical vein group III (disorder) Occurrence True Congenital Inferred relationship Some 1
Anomaly of umbilical vein group IV (disorder) Occurrence True Congenital Inferred relationship Some 1
Sternopagus (disorder) Occurrence True Congenital Inferred relationship Some 1
Sternopagus (disorder) Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 4
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Occurrence True Congenital Inferred relationship Some 2
Subcortical nodular heterotopia (disorder) Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 4
Helical ulceration of umbilical cord Occurrence False Congenital Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 4 (disorder) Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Occurrence True Congenital Inferred relationship Some 4
Bilateral secondary hypoplasia of lung Occurrence True Congenital Inferred relationship Some 1
Bilateral secondary hypoplasia of lung Occurrence True Congenital Inferred relationship Some 2
Single umbilical cord artery type II Occurrence False Congenital Inferred relationship Some 1
Single umbilical cord artery type I (disorder) Occurrence False Congenital Inferred relationship Some 1
Segmental neurofibromatosis type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Segmental neurofibromatosis type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndactyly of fingers of bilateral hands Occurrence True Congenital Inferred relationship Some 1
Syndactyly of fingers of bilateral hands Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 5p mosaicism Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 5p mosaicism Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 15q (disorder) Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of bilateral fibulae Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of bilateral fibulae Occurrence True Congenital Inferred relationship Some 2
Anomaly of umbilical vein group I Occurrence True Congenital Inferred relationship Some 1
Waardenburg syndrome type 3 Occurrence False Congenital Inferred relationship Some 1
Waardenburg syndrome type 3 Occurrence False Congenital Inferred relationship Some 2
Anomaly of umbilical vein group II Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Occurrence True Congenital Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 2
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 4
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 5
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 6
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 7
Thoracolumbosacral spina bifida aperta (disorder) Occurrence True Congenital Inferred relationship Some 8
Spina bifida aperta of upper thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta of upper thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of upper thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 3
Spina bifida aperta of upper thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 4
Single umbilical cord artery type III (disorder) Occurrence False Congenital Inferred relationship Some 1
Single umbilical cord artery type IV (disorder) Occurrence False Congenital Inferred relationship Some 1
Undescended right testicle Occurrence True Congenital Inferred relationship Some 1
Undescended left testicle Occurrence True Congenital Inferred relationship Some 1
X-linked congenital generalized hypertrichosis Occurrence True Congenital Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked complicated corpus callosum dysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Thoracoomphalopagus Occurrence True Congenital Inferred relationship Some 1
Thoracoomphalopagus Occurrence True Congenital Inferred relationship Some 2
Thoracoomphalopagus Occurrence True Congenital Inferred relationship Some 3
Ventriculomegaly due to developmental anomaly Occurrence True Congenital Inferred relationship Some 1
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Occurrence True Congenital Inferred relationship Some 1
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Occurrence True Congenital Inferred relationship Some 2
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Occurrence True Congenital Inferred relationship Some 1
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. Occurrence True Congenital Inferred relationship Some 2
Congenital contracture of gastrocnemius muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of foot Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of upper and lower limbs Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Lumbosacral spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 7
Cervicothoracic spina bifida aperta with hydrocephalus Occurrence True Congenital Inferred relationship Some 7
Congenital pes planus Occurrence True Congenital Inferred relationship Some 1
Congenital pes planus of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal shape of arch of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital claw toe Occurrence True Congenital Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Occurrence True Congenital Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Occurrence True Congenital Inferred relationship Some 2
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Occurrence True Congenital Inferred relationship Some 3
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Occurrence True Congenital Inferred relationship Some 4
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 6
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Occurrence True Congenital Inferred relationship Some 1
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Occurrence True Congenital Inferred relationship Some 3
Hydromyelocele with hydrocephalus Occurrence False Congenital Inferred relationship Some 5
Cervical myelocele Occurrence True Congenital Inferred relationship Some 3
hydromyélocèle Occurrence False Congenital Inferred relationship Some 4
Cervical hydromyelocele Occurrence False Congenital Inferred relationship Some 4
Lumbar hydromyelocele Occurrence False Congenital Inferred relationship Some 4

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