FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Adrenomyodystrophy (disorder) Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital myopathy with myasthenic-like onset (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital patent ductus arteriosus aneurysm Occurrence False Congenital Inferred relationship Some 2
Isolated congenital syngnathia (disorder) Occurrence True Congenital Inferred relationship Some 1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Occurrence True Congenital Inferred relationship Some 2
Craniofaciofrontodigital syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Occurrence True Congenital Inferred relationship Some 2
Charcot-Marie-Tooth disease type 4B3 Occurrence True Congenital Inferred relationship Some 1
Lethal congenital contracture syndrome type 5 Occurrence True Congenital Inferred relationship Some 2
X-linked Charcot-Marie-Tooth disease type 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
Spectrin-associated autosomal recessive cerebellar ataxia Occurrence True Congenital Inferred relationship Some 1
Cerebrofacioarticular syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked hereditary motor and sensory neuropathy Occurrence True Congenital Inferred relationship Some 1
X-linked hereditary spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 48 (disorder) Occurrence False Congenital Inferred relationship Some 2
Familial progressive hyper and hypopigmentation Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 5A Occurrence False Congenital Inferred relationship Some 2
Autosomal spastic paraplegia type 30 (disorder) Occurrence False Congenital Inferred relationship Some 2
X-linked Charcot-Marie-Tooth disease type 4 Occurrence True Congenital Inferred relationship Some 1
Ichthyosis prematurity syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 2
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 3
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 11 (disorder) Occurrence False Congenital Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 39 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 44 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 46 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 54 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 57 (disorder) Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 32 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 26 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 23 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 64 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 63 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 61 (disorder) Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 18 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 25 (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 29 (disorder) Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia, facial cutaneous lesion syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Ring chromosome 15 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 16 syndrome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome Y syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 1 Occurrence True Congenital Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 3 Occurrence True Congenital Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 5 (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked lethal multiple pterygium syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
X-linked lethal multiple pterygium syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Distal monosomy 13q syndrome Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 3p syndrome Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 7q36 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 9p syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Familial nasal acilia (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperphalangy Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Velofacioskeletal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary laryngeal lymphangioma Occurrence False Congenital Inferred relationship Some 2
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Wiedemann Steiner syndrome Occurrence False Congenital Inferred relationship Some 3
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Some 5
Trichodermodysplasia and dental alterations syndrome Occurrence True Congenital Inferred relationship Some 5
Syndactyly type 6 Occurrence True Congenital Inferred relationship Some 1
Craniodigital syndrome and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Spastic ataxia with congenital miosis Occurrence True Congenital Inferred relationship Some 2
46,XY ovotesticular disorder of sex development Occurrence True Congenital Inferred relationship Some 1
Familial multiple nevi flammei (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial vesicoureteral reflux (disorder) Occurrence True Congenital Inferred relationship Some 1
Finnish upper limb onset distal myopathy Occurrence False Congenital Inferred relationship Some 2
Hypermethioninemia due to deficiency of glycine N-methyltransferase Occurrence True Congenital Inferred relationship Some 1
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Familial isolated clinodactyly of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, alacrima, achalasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, polydactyly, uncombable hair syndrome Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence False Congenital Inferred relationship Some 3
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability Wolff type Occurrence True Congenital Inferred relationship Some 1
Congenital interventricular septum aneurysm Occurrence True Congenital Inferred relationship Some 1
Isolated congenital adermatoglyphia Occurrence True Congenital Inferred relationship Some 1
Dislocation of hip and facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Erythema palmare hereditarium Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 244 of 330 Next End


This concept is not in any reference sets

Back to Start