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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
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
Congenital lethal erythroderma (disorder) Occurrence True Congenital Inferred relationship Some 2
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalized congenital lipodystrophy with myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 2
Cavernous lymphangioma Occurrence True Congenital Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
3q13 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 6p (disorder) Occurrence True Congenital Inferred relationship Some 1
6p22 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
17q23.1q23.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 17q (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 1
17q12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 15q Occurrence True Congenital Inferred relationship Some 2
15q14 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
15q13.3 microdeletion Occurrence True Congenital Inferred relationship Some 2
15q24 microdeletion Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 15q (disorder) Occurrence True Congenital Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Occurrence True Congenital Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital abnormality of right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Congenital fusion of right atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplastic right atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital parachute malformation of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Congenital fusion of left atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplastic left atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
16q24.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
16p13.11 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
16p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
16p11.2p12.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 16q (disorder) Occurrence True Congenital Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
2q31.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
2q32q33 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
2p15p16.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Mutilating keratoderma Occurrence True Congenital Inferred relationship Some 5
Natal teeth (disorder) Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Mosaic trisomy 8 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital mixed conductive and sensorineural hearing loss Occurrence True Congenital Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Occurrence True Congenital Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
Nonfenestrated interatrial communication within oval fossa (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dyshormonogenetic goiter AND iodide leak Occurrence True Congenital Inferred relationship Some 1
Familial dyshormonogenetic goitre Occurrence True Congenital Inferred relationship Some 1
Dyshormonogenic goiter Occurrence True Congenital Inferred relationship Some 1
X-linked oligodontia (disorder) Occurrence True Congenital Inferred relationship Some 3
Camptodactyly of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital faecal incontinence Occurrence True Congenital Inferred relationship Some 1
Hereditary congenital prekallikrein deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Split spinal cord malformation type I (disorder) Occurrence True Congenital Inferred relationship Some 1
Split spinal cord malformation type I (disorder) Occurrence True Congenital Inferred relationship Some 2
Split spinal cord malformation type I (disorder) Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Occurrence True Congenital Inferred relationship Some 4
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome type 1 Occurrence True Congenital Inferred relationship Some 3
Symphalangism Cushing type Occurrence True Congenital Inferred relationship Some 1
XK aprosencephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital accessory tissue of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to muscle beta-enolase deficiency Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 6
Hydrocephalus with anomaly of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 3
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
N syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital infection caused by Lymphocytic choriomeningitis virus Occurrence True Congenital Inferred relationship Some 2
Generalized peeling skin syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Hereditary skin peeling syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acral peeling skin syndrome Occurrence True Congenital Inferred relationship Some 1

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