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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
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Senter syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
Ichthyosis hystrix gravior Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Cystathioninuria Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mirror-image polydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 7
Congenital myopathy with reduced type 2 muscle fibers (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic ataxia, dysarthria due to glutaminase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Localised non-Herlitz junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital isolated onychodysplasia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
imperforation de valve commune atrioventriculaire Occurrence False Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve limited to one ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Triple orifice of left ventricular component of common atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Ebstein's anomaly Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve chordae too short Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve chordae too long (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve chordae to outlet septum Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Arcade abnormality of common atrioventricular valve chordae Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Atresia of common atrioventricular valve Occurrence False Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve leaflet abnormality (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Common atrioventricular valve prolapse (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Abnormality of common atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Abnormality of common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Fused common atrioventricular valve papillary muscle Occurrence False Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoplastic common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Abnormality of common atrioventricular valve in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Trifoliate left atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Abnormality of atrioventricular valve leaflet in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Triple orifice of left ventricular component of common atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Ebstein's anomaly Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Common atrioventricular valve leaflet abnormality (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Common atrioventricular valve prolapse (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
True cleft of common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital complete absence of left upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of right upper limb Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Sporadic camptodactyly Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypogammaglobulinaemia Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Menke Hennekam syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Kartagener syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 6
WARS2-related combined oxidative phosphorylation defect Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital leptin deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1

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