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
Congenital sixth nerve palsy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cryptophthalmos (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ankyloblepharon filiforme adnatum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital tarsal kink (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Euryblepharon (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital miosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital mydriasis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital iris ectropion (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
dysplasi av storhjärnsbarken	Occurrence	False	Congenital	Inferred relationship	Some
Nicolaides-Baraitser syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Smith-Magenis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa acquisita, classical acral type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa acquisita, bullous pemphigoid-like (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa acquisita, cicatricial pemphigoid-like (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa acquisita, Brunsting-Perry type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa acquisita, oral mucosal involvement (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Gouty tophus	Occurrence	False	Congenital	Inferred relationship	Some
Gouty tophus of digit	Occurrence	False	Congenital	Inferred relationship	Some
Sporadic porphyria cutanea tarda (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
immunbrist med multikarboxylasbrist	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital malignant melanoma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
medfödd kärlmissbildning i huden	Occurrence	False	Congenital	Inferred relationship	Some
förvärvad kärlmissbildning i huden	Occurrence	False	Congenital	Inferred relationship	Some
Developmental anomaly of vitelline duct (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant ichthyosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
X-bunden recessiv iktyos	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive ichthyosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Punctate palmoplantar keratoderma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
ärftlig epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
kongenital cutis laxa	Occurrence	False	Congenital	Inferred relationship	Some
Genetic disorder of lipid storage (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital vascular malformation due to inherited syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Developmental malformation of branchial arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acquired arteriovenous malformation of the skin (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fordyce spots of lips (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fordyce spots of buccal mucosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fordyce spots of penis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fordyce spots of vulva (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Post-inflammatory cutis laxa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa following urticaria-angioedema (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa following hypersensitivity reaction (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa with complement deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Solitary infantile myofibromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Multicentric infantile myofibromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aggressive systemic infantile myofibromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lower lip pits (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary mucoepithelial dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Patent vitelline duct (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Vitelline duct polyp (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypertrichosis with congenital macrogingivae (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Vertical alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Sutural alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Triangular alopecia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pigmented nevus with atypical melanocytic proliferation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Port-wine stain with associated anomalies (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Port-wine stain with oculocutaneous melanosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Oculocerebrocutaneous syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Midline cervical cleft (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutaneous lesion resulting from spinal dysraphism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Port-wine stain associated with spinal dysraphism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cutaneous lesion resulting from spina bifida (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Rudimentary digit (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Drug-induced epidermolysis bullosa acquisita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Drug-induced cutis laxa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Pseudoporphyria due to PUVA therapy	Occurrence	False	Congenital	Inferred relationship	Some
Hemodialysis-associated pseudoporphyria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
porfyriliknande reaktion på gift och/eller miljötoxin	Occurrence	False	Congenital	Inferred relationship	Some
Porphyria due to hexachlorobenzene	Occurrence	False	Congenital	Inferred relationship	Some
Porphyria due to chlorinated phenol	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis in Trisomy 13 syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
café-au-lait-fläckar och ringkromosom 11	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
XXYY syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Poly Y syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Odonto-onycho-dermal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Odontomicronychial ectodermal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cardio-acral-facial syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cardio-facio-cutaneous syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
bitemporala ärr med onormala ögonfransar	Occurrence	False	Congenital	Inferred relationship	Some
Cleft palate lateral synechia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary neurocutaneous angiomata (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Lamellar ichthyosis (limited type) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
X-bunden dominant chondrodysplasia punctata, Happle	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Occurrence	False	Congenital	Inferred relationship	Some
Flexural Darier's disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some

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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)