400038003: Congenital malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation syndromes due to known exogenous causes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Klippel's disease	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Multiple system malformation syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
congenitaal malformatiesyndroom met invloed op aangezichtskenmerken	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
congenitaal malformatiesyndroom met betrokkenheid van extremiteit	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
congenitaal malformatiesyndroom met metabole verstoring	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Biemond's syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Ullrich-Feichtiger syndrome, chimera	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes with other skeletal changes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Due to	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Associated with	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	Associated with	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Oromandibular-limb hypogenesis spectrum	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation sequence	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acrocephalosyndactyly	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation defect spectrum	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cleft palate lateral synechia syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Bitemporal scars with abnormal eyelashes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-acral-facial syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation association	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-facio-cutaneous syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Multiple congenital anomalies of fetus	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Carpenter's syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
First and second branchial arch syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Pai type (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Miles Carpenter type (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Armfield type (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability Abidi type (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Family history of multiple congenital anomalies (situation)	Associated finding	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	1
Gorlin-Chaudhry-Moss syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal misoprostol syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by retinoid (disorder)	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryofetopathy caused by methimazole (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal or neonatal effect of placental or breast transfer of alcohol	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal iodine syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal hydantoin syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal toluene syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation caused by cytotoxic agents (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
effet sur le fœtus ou le nouveau-né d'une consommation d'alcool par la mère	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal captopril/enalapril syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by mycophenolate mofetil (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal carbamazepine syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal cocaine syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal benzodiazepine syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal minoxidil syndrome (disorder)	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal primidone syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryofetopathy caused by indomethacin (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Embryopathy caused by phenobarbital (disorder)	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facio-auriculo-vertebral spectrum (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Schisis association syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital brachyoesophagus, intrathoracic stomach, vertebral anomalies syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Madelung's deformity	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Rhizomelic dysplasia (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Mesomelic dysplasia	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1767958011	Congenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1779310019	Congenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005370015	Multiple congenital malformations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006547017	Multiple congenital anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
471671000172116	syndrome de malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
405051000172110	congenitaal malformatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)