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400038003: 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:

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

1401 descendants. Search Descendants:

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
Congenital malformation syndromes affecting facial appearance 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
Congenital malformation syndromes involving limbs Is a False Congenital malformation syndrome (disorder) Inferred relationship Some
Congenital malformation syndromes with metabolic disturbances 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
Fetal or neonatal effect of maternal use of alcohol 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
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Is a True Congenital malformation syndrome (disorder) Inferred relationship Some

This concept is not in any reference sets

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