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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
Mosaic 1q duplication Occurrence True Congenital Inferred relationship Some 3
X-linked hypodontia Occurrence True Congenital Inferred relationship Some 1
X-linked hypodontia Occurrence True Congenital Inferred relationship Some 2
X-linked oligodontia Occurrence True Congenital Inferred relationship Some 1
X-linked oligodontia Occurrence True Congenital Inferred relationship Some 2
Medial deletion of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Medial deletion of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 3
Aplasia of gallbladder Occurrence True Congenital Inferred relationship Some 1
Multiple congenital defects of vertebral segmentation Occurrence True Congenital Inferred relationship Some 1
Optic nerve hypoplasia due to endocrine deficiency Occurrence True Congenital Inferred relationship Some 1
Medial duplication of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Medial duplication of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta type 5 Occurrence True Congenital Inferred relationship Some 1
Onycho-tricho-dysplasia neutropenia syndrome Occurrence True Congenital Inferred relationship Some 1
Onycho-tricho-dysplasia neutropenia syndrome Occurrence True Congenital Inferred relationship Some 2
Vascular ring with right aortic arch Occurrence True Congenital Inferred relationship Some 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) Occurrence True Congenital Inferred relationship Some 1
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve Occurrence True Congenital Inferred relationship Some 1
Single inlet ventricle with absent atrioventricular connection Occurrence True Congenital Inferred relationship Some 1
Microcephaly with simplified gyral pattern Occurrence True Congenital Inferred relationship Some 1
Microphthalmos due to branchio-oculo-facial syndrome Occurrence True Congenital Inferred relationship Some 1
Microlissencephaly Occurrence True Congenital Inferred relationship Some 1
Medial duplication of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Medial duplication of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 2
Bilateral agenesis of feet Occurrence True Congenital Inferred relationship Some 1
Bilateral agenesis of feet Occurrence True Congenital Inferred relationship Some 2
Absent left atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Imperforate left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Imperforate left atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
Straddling left atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Straddling left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Double orifice of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Double orifice of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
True cleft of left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 1
True cleft of left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 3
Accessory tissue on left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Accessory tissue on left atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve chordae too short Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve chordae too short Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve chordae too long Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve chordae too long Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve chordae to outlet septum Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve chordae to outlet septum Occurrence True Congenital Inferred relationship Some 3
Arcade abnormality of left atrioventricular valve chordae Occurrence True Congenital Inferred relationship Some 2
Arcade abnormality of left atrioventricular valve chordae Occurrence True Congenital Inferred relationship Some 3
Parachute malformation of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Abnormality of left atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Abnormality of left atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve atresia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve atresia Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve dysplasia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve dysplasia Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve hypoplasia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve hypoplasia Occurrence True Congenital Inferred relationship Some 3
Overriding left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Overriding left atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 3
Absent left atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 2
Absent left atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve leaflet dysplasia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve leaflet dysplasia Occurrence True Congenital Inferred relationship Some 3
Abnormality of left atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 2
Abnormality of left atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 3
Abnormality of left atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Fused left atrioventricular valve papillary muscles Occurrence False Congenital Inferred relationship Some 3
Hypoplastic left atrioventricular valve papillary muscle Occurrence False Congenital Inferred relationship Some 3
Left atrioventricular valve stenosis in double inlet ventricle Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve stenosis in double inlet ventricle Occurrence True Congenital Inferred relationship Some 4
Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 3
Absent common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Absent right atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 1
Absent right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Congenital glaucoma of left eye Occurrence True Congenital Inferred relationship Some 1
Lowry MacLean syndrome Occurrence True Congenital Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 2
Bilateral primary congenital glaucoma Occurrence False Congenital Inferred relationship Some 4
Microphthalmos due to Fryns syndrome Occurrence True Congenital Inferred relationship Some 1
Microphthalmos due to Delleman syndrome Occurrence True Congenital Inferred relationship Some 1
Micromelic dwarfism Fryn type Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital tibiofibular synostosis Occurrence True Congenital Inferred relationship Some 2
Bilateral split foot Occurrence True Congenital Inferred relationship Some 4
Bilateral split hand Occurrence True Congenital Inferred relationship Some 4
Agenesis of metacarpal bone Occurrence True Congenital Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa with absence of skin Occurrence True Congenital Inferred relationship Some 1
Deletion of short arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 2
Deletion of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 2
Deletion of long arm of chromosome 13 Occurrence True Congenital Inferred relationship Some 2
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 4
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 5
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 6
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 7
Uterus bicornis bicollis with blind hemi-vagina Occurrence True Congenital Inferred relationship Some 2
Uterus bicornis bicollis with blind hemi-vagina Occurrence True Congenital Inferred relationship Some 3
Uterus bicornis bicollis with patent cervix and vagina Occurrence True Congenital Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 5
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 5

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Reference Sets

Qualifier value foundation reference set

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