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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

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
Aplasia cutis congenita of limb Occurrence True Congenital Inferred relationship Some 1
Agenesis of tarsal bone and metatarsal bone Occurrence True Congenital Inferred relationship Some 1
Agenesis of tarsal bone and metatarsal bone Occurrence True Congenital Inferred relationship Some 2
Congenital malformation caused by valproic acid Occurrence True Congenital Inferred relationship Some 1
Rokitansky sequence Occurrence True Congenital Inferred relationship Some 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2 Occurrence True Congenital Inferred relationship Some 3
Bilateral syndactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral syndactyly of toes Occurrence True Congenital Inferred relationship Some 2
Bilateral megalencephaly Occurrence True Congenital Inferred relationship Some 1
Bilateral megalencephaly Occurrence True Congenital Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 1 Occurrence True Congenital Inferred relationship Some 1
14q32 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
14q32 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
14q32 deletion syndrome Occurrence True Congenital Inferred relationship Some 3
Alpha-N-acetylgalactosaminidase deficiency type 2 Occurrence True Congenital Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency type 3 Occurrence True Congenital Inferred relationship Some 1
11p15 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
11p15 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
11p15 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
12q15 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
12q15 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
17q11 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
17q11 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
17q11 deletion syndrome Occurrence True Congenital Inferred relationship Some 3
17q11 deletion syndrome Occurrence True Congenital Inferred relationship Some 4
46,XY disorder of sex development Occurrence True Congenital Inferred relationship Some 1
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia Occurrence True Congenital Inferred relationship Some 1
Double orifice of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Double orifice of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
46,XX androgen-induced disorder of sex development of iatrogenic maternal origin Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to synthetic oral progestogen Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral diethylstilbestrol Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development caused by testosterone and/or testosterone derivative Occurrence True Congenital Inferred relationship Some 1
46,XX testicular disorder of sex development Occurrence True Congenital Inferred relationship Some 1
Atresia of ileum type I Occurrence True Congenital Inferred relationship Some 1
Atresia of ileum type II Occurrence True Congenital Inferred relationship Some 1
Atresia of ileum type IIIa Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type I Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type II Occurrence True Congenital Inferred relationship Some 1
Atresia of jejunum type IIIa Occurrence True Congenital Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
17q24-qter duplication syndrome Occurrence True Congenital Inferred relationship Some 1
17q24-qter duplication syndrome Occurrence True Congenital Inferred relationship Some 2
20p12.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
20p12.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
3p25.3 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
3p25.3 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
5q22.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
5q22.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Proteus syndrome Occurrence True Congenital Inferred relationship Some 2
Proteus syndrome Occurrence True Congenital Inferred relationship Some 3
Port-wine stain in proteus syndrome Occurrence True Congenital Inferred relationship Some 4
7p12-p14 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
7p12-p14 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
7p21.1 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
7p21.1 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
9p24.3 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
9p24.3 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
9q34 deletion syndrome Occurrence True Congenital Inferred relationship Some 1
9q34 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of left renal artery Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right renal artery Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Occurrence True Congenital Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus Occurrence True Congenital Inferred relationship Some 4
Brachymetatarsia of first metatarsal Occurrence True Congenital Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Occurrence True Congenital Inferred relationship Some 1
Congenital absence of cystic duct Occurrence True Congenital Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
12q15q21.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
22q11.2 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 Occurrence True Congenital Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 Occurrence True Congenital Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 Occurrence True Congenital Inferred relationship Some 5
Congenital anomalous tracheobronchial branching Occurrence True Congenital Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct Occurrence True Congenital Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct Occurrence True Congenital Inferred relationship Some 2
Bicuspid aortic valve-associated aortopathy Occurrence True Congenital Inferred relationship Some 2
Acrocardiofacial syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral lower limbs Occurrence True Congenital Inferred relationship Some 2
Congenital complete absence of bilateral upper limbs Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of bilateral upper limbs Occurrence True Congenital Inferred relationship Some 2
Congenital atresia of bilateral anterior nares Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of bilateral anterior nares Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant polycystic liver disease Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant Robinow syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant Robinow syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant Robinow syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal dominant Robinow syndrome Occurrence True Congenital Inferred relationship Some 5
Autosomal recessive epidermolytic ichthyosis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence True Congenital Inferred relationship Some 5

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Reference Sets

Qualifier value foundation reference set

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