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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

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
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
COG2-related congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 5
Congenital complete absence of right lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of left lower limb Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive central core disease Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant central core disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of soft tissue Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of right lower leg (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right lower leg (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left lower leg Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left lower leg Occurrence True Congenital Inferred relationship Some 2
Congenital fiber-type disproportion myopathy due to ZAK mutation Occurrence True Congenital Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to SELENON mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cystic dilatation of common bile duct Occurrence True Congenital Inferred relationship Some 1
Central basal perimembranous ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of finger of left hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of finger of right hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital short left Achilles tendon Occurrence True Congenital Inferred relationship Some 1
Congenital short right Achilles tendon Occurrence True Congenital Inferred relationship Some 1
Congenital palsy of trochlear nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
Lymphedema, posterior choanal atresia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Some 1
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Some 2
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Some 3
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Some 4
Dysraphism, cleft lip and palate, limb reduction defect syndrome Occurrence True Congenital Inferred relationship Some 5
Severe oculo-renal-cerebellar syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 3
Eye defects, arachnodactyly, cardiopathy syndrome Occurrence True Congenital Inferred relationship Some 5
Fryns Smeets Thiry syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital hydrocephalus, low insertion of umbilicus syndrome Occurrence True Congenital Inferred relationship Some 3
Microcephalic osteodysplastic primordial dwarfism type II Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic primordial dwarfism type II Occurrence True Congenital Inferred relationship Some 2
Congenital fibre-type disproportion myopathy due to ACTA1 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Occurrence True Congenital Inferred relationship Some 1
Congenital fiber-type disproportion myopathy due to TPM3 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation Occurrence True Congenital Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Distal arthrogryposis type 10 (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
SATB2-associated syndrome Occurrence True Congenital Inferred relationship Some 1
SATB2-associated syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant deafness with onychodystrophy syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant deafness with onychodystrophy syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 3 Occurrence True Congenital Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 4 Occurrence True Congenital Inferred relationship Some 3
Congenital abnormal fusion of right carpal bones (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital dysplasia of upper limbs Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital dysplasia of upper limbs Occurrence True Congenital Inferred relationship Some 2
Congenital dysplasia of right upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones Occurrence True Congenital Inferred relationship Some 2
Congenital dysplasia of left upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of left carpal bones (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Transmembrane protein 199 congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Occurrence True Congenital Inferred relationship Some 2
Congenital kyphosis of cervicothoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Polymicrogyria due to TUBB2B mutation Occurrence True Congenital Inferred relationship Some 1
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Occurrence True Congenital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of craniovertebral junction (disorder) Occurrence True Congenital Inferred relationship Some 1
Long QT syndrome type 9 Occurrence False Congenital Inferred relationship Some 1
Long QT syndrome type 6 (disorder) Occurrence False Congenital Inferred relationship Some 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Occurrence True Congenital Inferred relationship Some 1

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