255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Tall stature, scoliosis, macrodactyly of great toe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Tall stature, scoliosis, macrodactyly of great toe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Sinoatrial node dysfunction and deafness	Occurrence	True	Congenital	Inferred relationship	Some	1
Sinoatrial node dysfunction and deafness	Occurrence	True	Congenital	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
2p13.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
2p13.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 70 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 70 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	False	Congenital	Inferred relationship	Some	1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	False	Congenital	Inferred relationship	Some	2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Occurrence	False	Congenital	Inferred relationship	Some	3
11p15.4 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
11p15.4 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
11p15.4 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
3q27.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
3q27.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
3q27.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
16q24.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
16q24.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
16q24.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital Horner syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Familial omphalocele syndrome with facial dysmorphism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Familial omphalocele syndrome with facial dysmorphism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial omphalocele syndrome with facial dysmorphism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Kagami Ogata syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 7q11.23 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 7q11.23 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Metaphyseal chondrodysplasia Kaitila type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 12p	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 12p	Occurrence	True	Congenital	Inferred relationship	Some	2
49,XXXYY syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
49,XXXYY syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypertrichosis cubiti (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypertrichosis cubiti (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Tetramelic monodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetramelic monodactyly	Occurrence	True	Congenital	Inferred relationship	Some	2
Leptomyelolipoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Leptomyelolipoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dentin dysplasia, type I	Occurrence	True	Congenital	Inferred relationship	Some	1
Inherited cutaneous hyperpigmentation	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial omphalocele syndrome with facial dysmorphism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Isolated arhinencephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated arhinencephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Dentin dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Dyschromatosis universalis	Occurrence	True	Congenital	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	Occurrence	True	Congenital	Inferred relationship	Some	1
Pilotto syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Pilotto syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Dentin dysplasia with sclerotic bone syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Dentin dysplasia with sclerotic bone syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant severe congenital neutropaenia	Occurrence	True	Congenital	Inferred relationship	Some	2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Occurrence	True	Congenital	Inferred relationship	Some	2
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
9q22.3-deletionssyndromet	Occurrence	False	Congenital	Inferred relationship	Some	1
Dermatopathia pigmentosa reticularis	Occurrence	True	Congenital	Inferred relationship	Some	1
Naegeli-Franceschetti-Jadassohn syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital panfollicular nevus	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Monosomy 9p	Occurrence	True	Congenital	Inferred relationship	Some	1
Monosomy 9p	Occurrence	True	Congenital	Inferred relationship	Some	2
Edinburgh malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, short stature, hypertelorism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hallux varus, preaxial polysyndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hallux varus, preaxial polysyndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hallux varus, preaxial polysyndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hallux varus, preaxial polysyndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Oculootodental syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2

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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)