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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
Craniofacial deafness hand syndrome Occurrence True Congenital Inferred relationship Some 3
Emberger syndrome Occurrence False Congenital Inferred relationship Some 1
Myhre syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 6
X-linked non progressive cerebellar ataxia Occurrence True Congenital Inferred relationship Some 2
Pseudohypoparathyroidism type I A Occurrence True Congenital Inferred relationship Some 3
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumour of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Congenital absence of skin on scalp Occurrence True Congenital Inferred relationship Some 2
Barber-Say syndrome Occurrence True Congenital Inferred relationship Some 2
Barber-Say syndrome Occurrence True Congenital Inferred relationship Some 3
Barber-Say syndrome Occurrence True Congenital Inferred relationship Some 4
Barber-Say syndrome Occurrence True Congenital Inferred relationship Some 5
Agenesis of bilateral lungs Occurrence True Congenital Inferred relationship Some 1
Agenesis of bilateral lungs Occurrence True Congenital Inferred relationship Some 2
Congenital generalised hypertrichosis Occurrence True Congenital Inferred relationship Some 1
MASA syndrome Occurrence True Congenital Inferred relationship Some 1
MASA syndrome Occurrence True Congenital Inferred relationship Some 2
MASA syndrome Occurrence True Congenital Inferred relationship Some 3
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 6
Aplasia cutis congenita of limb Occurrence True Congenital Inferred relationship Some 2
46,XY disorder of sex development due to maternal ingestion of progestogen Occurrence True Congenital Inferred relationship Some 1
Basal encephalocoele Occurrence True Congenital Inferred relationship Some 1
Basal encephalocoele Occurrence True Congenital Inferred relationship Some 2
46 XY disorder of sex development due to maternal ingestion of oestrogen Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal Krukenberg neoplasm Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal adrenal neoplasm Occurrence True Congenital Inferred relationship Some 1
Atresia of mitral valve with absent atrioventricular connection Occurrence True Congenital Inferred relationship Some 1
Atresia of mitral valve with absent atrioventricular connection Occurrence True Congenital Inferred relationship Some 2
Ablepharon of bilateral eyelids Occurrence True Congenital Inferred relationship Some 1
Ablepharon of bilateral eyelids Occurrence True Congenital Inferred relationship Some 2
46,XX disorder of sex development due to maternal androluteoma Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal arrhenoblastoma Occurrence True Congenital Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Occurrence True Congenital Inferred relationship Some 1
Parachute malformation of right atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Parachute malformation of right atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Constriction ring syndrome of lower limb with amputation Occurrence True Congenital Inferred relationship Some 3
Constriction ring syndrome Occurrence True Congenital Inferred relationship Some 2
Blue sclera of bilateral eyes Occurrence True Congenital Inferred relationship Some 1
Blue sclera of bilateral eyes Occurrence True Congenital Inferred relationship Some 2
Bilateral clinodactyly of toes Occurrence True Congenital Inferred relationship Some 1
Bilateral clinodactyly of toes Occurrence True Congenital Inferred relationship Some 2
Bilateral coloboma of macula Occurrence True Congenital Inferred relationship Some 1
Bilateral coloboma of macula Occurrence True Congenital Inferred relationship Some 2
Bilateral coloboma of lens Occurrence True Congenital Inferred relationship Some 1
Bilateral coloboma of lens Occurrence True Congenital Inferred relationship Some 2
Bilateral developmental anomaly of pleurae Occurrence True Congenital Inferred relationship Some 1
Bilateral developmental anomaly of pleurae Occurrence True Congenital Inferred relationship Some 2
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form Occurrence True Congenital Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of lateral fold of hallux Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital distichiasis Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital distichiasis Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital distichiasis Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital distichiasis Occurrence True Congenital Inferred relationship Some 4
Congenital instability of spine Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital lower limb hypertrophy Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital lower limb hypertrophy Occurrence True Congenital Inferred relationship Some 2
Naxos disease Occurrence True Congenital Inferred relationship Some 3
Deficient mural leaflet of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital knee dislocation Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital knee dislocation Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of lobe of ear Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital entropion Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital entropion Occurrence True Congenital Inferred relationship Some 2
Congenital crumpled ear Occurrence True Congenital Inferred relationship Some 1
Congenital coronal cleft of vertebra Occurrence True Congenital Inferred relationship Some 1
Bilateral cornea plana Occurrence True Congenital Inferred relationship Some 1
Bilateral cornea plana Occurrence True Congenital Inferred relationship Some 2
Congenital stenosis of spinal canal Occurrence True Congenital Inferred relationship Some 1
Congenital regurgitation of truncal valve Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal retraction of bilateral eyelids Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal retraction of bilateral eyelids Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital corneal opacity Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital corneal opacity Occurrence True Congenital Inferred relationship Some 2
Congenital malalignment of great toenail Occurrence True Congenital Inferred relationship Some 1
Congenital refluxing megaureter Occurrence True Congenital Inferred relationship Some 1
Bilateral microphthalmos with congenital coloboma Occurrence True Congenital Inferred relationship Some 1
Bilateral microphthalmos with congenital coloboma Occurrence True Congenital Inferred relationship Some 2
Bilateral microphthalmos with congenital coloboma Occurrence True Congenital Inferred relationship Some 3
Bilateral microphthalmos with congenital coloboma Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 3
Bilateral congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital macrophthalmos Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital macrophthalmos Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle Occurrence True Congenital Inferred relationship Some 1
Keratitis ichthyosis and deafness syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital absence of seminal vesicle Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Occurrence True Congenital Inferred relationship Some 3
Familial male-limited precocious puberty Occurrence True Congenital Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome Occurrence False Congenital Inferred relationship Some 2
Spastic paraplegia with precocious puberty syndrome Occurrence False Congenital Inferred relationship Some 3
Chromosome 2q37 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Occurrence True Congenital Inferred relationship Some 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Bartter syndrome type 4a Occurrence True Congenital Inferred relationship Some 4
Bartter syndrome type 4 Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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