FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
3q27.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
16q24.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
16q24.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
16q24.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Occurrence True Congenital Inferred relationship Some 2
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital Horner syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital Horner syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital Horner syndrome Occurrence True Congenital Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Occurrence True Congenital Inferred relationship Some 3
Familial omphalocele syndrome with facial dysmorphism Occurrence True Congenital Inferred relationship Some 2
Familial omphalocele syndrome with facial dysmorphism Occurrence True Congenital Inferred relationship Some 1
Kagami Ogata syndrome Occurrence True Congenital Inferred relationship Some 1
Distal 7q11.23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Distal 7q11.23 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia Kaitila type 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
Papyraceous fetus - delivered Occurrence False Congenital Inferred relationship Some
Papyraceous fetus - not delivered Occurrence False Congenital Inferred relationship Some
Hypertrichosis cubiti Occurrence True Congenital Inferred relationship Some 1
Hypertrichosis cubiti Occurrence True Congenital Inferred relationship Some 2
Hypertrichosis cubiti 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 Occurrence True Congenital Inferred relationship Some 2
Leptomyelolipoma 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 Occurrence True Congenital Inferred relationship Some 4
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Occurrence False Congenital Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence True Congenital Inferred relationship Some 3
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, progressive neurological defect, endocrinopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Alopecia, progressive neurological defect, endocrinopathy syndrome Occurrence True Congenital Inferred relationship Some 3
Alopecia, progressive neurological defect, endocrinopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Isolated arhinencephaly Occurrence True Congenital Inferred relationship Some 1
Isolated arhinencephaly 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 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 Occurrence True Congenital Inferred relationship Some 1
Hepatic fibrosis, renal cyst, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Hepatic fibrosis, renal cyst, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Terminal osseous dysplasia and pigmentary defect syndrome 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 Occurrence True Congenital Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Occurrence True Congenital Inferred relationship Some 2
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Known or suspected fetal abnormality Occurrence False Congenital Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 3
Holoprosencephaly with caudal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly with caudal dysgenesis syndrome Occurrence True Congenital Inferred relationship Some 2
Fetus with central nervous system malformation - delivered Occurrence False Congenital Inferred relationship Some
Fetus with central nervous system malformation with antenatal problem Occurrence False Congenital Inferred relationship Some
Postaxial tetramelic oligodactyly Occurrence True Congenital Inferred relationship Some 1
Postaxial tetramelic oligodactyly Occurrence True Congenital Inferred relationship Some 2
Fetus with chromosomal abnormality - delivered Occurrence False Congenital Inferred relationship Some
Fetus with chromosomal abnormality with antenatal problem Occurrence False Congenital Inferred relationship Some
Fetus with hereditary disease Occurrence False Congenital Inferred relationship Some
Fetus with hereditary disease - delivered Occurrence False Congenital Inferred relationship Some
Imperforate oropharynx, costovertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
Imperforate oropharynx, costovertebral anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Imperforate oropharynx, costovertebral anomalies syndrome 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
Fetus with hereditary disease with antenatal problem Occurrence False Congenital Inferred relationship Some
Ectrodactyly polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Fetus with viral damage via mother - delivered Occurrence False Congenital Inferred relationship Some
9q22.3 deletion syndrome Occurrence False Congenital Inferred relationship Some 1
Fetus with viral damage via mother with antenatal problem Occurrence False Congenital Inferred relationship Some
Fetus with drug damage Occurrence False Congenital Inferred relationship Some
Dermatopathia pigmentosa reticularis Occurrence True Congenital Inferred relationship Some 1
Naegeli-Franceschetti-Jadassohn syndrome Occurrence True Congenital Inferred relationship Some 1
Fetus with drug damage - delivered Occurrence False Congenital Inferred relationship Some
Fetus with drug damage with antenatal problem Occurrence False Congenital Inferred relationship Some
Congenital panfollicular naevus Occurrence True Congenital Inferred relationship Some 1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 1
Maternal care for (suspected) damage to fetus from alcohol Occurrence False Congenital Inferred relationship Some
Fetus with radiation damage Occurrence False Congenital Inferred relationship Some
Monosomy 9p Occurrence True Congenital Inferred relationship Some 1
Monosomy 9p Occurrence True Congenital Inferred relationship Some 2
Edinburgh malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Fetus with radiation damage - delivered Occurrence False Congenital Inferred relationship Some
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
Fetus with radiation damage with antenatal problem Occurrence False Congenital Inferred relationship Some
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

Start Previous Page 322 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start