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400038003: Congenital malformation syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
1767958011 Congenital malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1779310019 Congenital malformation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3005370015 Multiple congenital malformations en Synonym Active Entire term case insensitive SNOMED CT core module
3006547017 Multiple congenital anomalies en Synonym Active Entire term case insensitive SNOMED CT core module

1355 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malformation syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
Congenital malformation syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Congenital malformation syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital malformation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital malformation syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Congenital malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital malformation syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital malformation syndromes due to known exogenous causes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Klippel's disease Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Osteochondrodysplasia with osteopetrosis Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes affecting facial appearance Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes associated with short stature Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes involving limbs Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes with metabolic disturbances Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Biemond's syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Ullrich-Feichtiger syndrome, chimera Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes with other skeletal changes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndrome due to known exogenous cause Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Aplasia cutis congenita due to underlying malformation (Type 4) Due to True Congenital malformation syndrome Inferred relationship Existential restriction modifier 2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) Associated with True Congenital malformation syndrome Inferred relationship Existential restriction modifier 2
Oculocerebrocutaneous syndrome Associated with True Congenital malformation syndrome Inferred relationship Existential restriction modifier 2
Oromandibular-limb hypogenesis spectrum Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Facial milia, lobate tongue, lingual and labial frenula syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Malformation sequence Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Acrocephalosyndactyly Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Malformation defect spectrum Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Cleft palate lateral synechia syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Bitemporal scars with abnormal eyelashes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Cardio-acral-facial syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Malformation association Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Cardio-facio-cutaneous syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Multiple congenital anomalies of fetus Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Carpenter's syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
First and second branchial arch syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability Pai type Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability Miles Carpenter type Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability Armfield type Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability Abidi type Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Family history of multiple congenital anomalies Associated finding True Congenital malformation syndrome Inferred relationship Existential restriction modifier 1
Gorlin-Chaudhry-Moss syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal misoprostol syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Embryopathy caused by retinoid Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Embryofetopathy caused by methimazole Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal or neonatal effect of placental or breast transfer of alcohol Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal iodine syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal hydantoin syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal toluene syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation caused by cytotoxic agents Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal or neonatal effect of maternal use of alcohol Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal captopril/enalapril syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Embryopathy caused by mycophenolate mofetil Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal carbamazepine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal cocaine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal benzodiazepine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal minoxidil syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Fetal primidone syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Embryofetopathy caused by indomethacin Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Embryopathy caused by phenobarbital Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Amegakaryocytic thrombocytopenia with congenital malformation Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Facio-auriculo-vertebral spectrum Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Schisis association syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Madelung's deformity Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier
Congenital malformation syndromes with other skeletal changes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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