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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
1767958011 Congenital malformation syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
3393634012 syndrome congénital malformatif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
471671000172116 syndrome de malformation congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393634012 syndrome congénital malformatif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
471671000172116 syndrome de malformation congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1401 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 (core metadata concept)
Congenital malformation syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (core metadata concept)
Klippel's disease Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Osteochondrodysplasia with osteopetrosis (disorder) Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple system malformation syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes affecting facial appearance Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes involving limbs Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes with metabolic disturbances Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Biemond's syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Ullrich-Feichtiger syndrome, chimera Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes with other skeletal changes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndrome due to known exogenous cause Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Due to True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Associated with True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculocerebrocutaneous syndrome (disorder) Associated with True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Malformation sequence Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Malformation defect spectrum Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate lateral synechia syndrome (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Bitemporal scars with abnormal eyelashes Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cardio-acral-facial syndrome (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Malformation association Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cardio-facio-cutaneous syndrome (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies of fetus Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter's syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
First and second branchial arch syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Pai type Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Miles Carpenter type (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Abidi type (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Family history of multiple congenital anomalies (situation) Associated finding True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept) 1
Gorlin-Chaudhry-Moss syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal misoprostol syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Retinoid embryopathy Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Methimazole embryofetopathy Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goitre and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goitre due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal hydantoin syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal toluene syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation caused by cytotoxic agents (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
fœtus ou nouveau-né affecté par l'usage maternel d'alcool Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal captopril/enalapril syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal carbamazepine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Foetal cocaine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal benzodiazepine syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal minoxidil syndrome (disorder) Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fetal primidone syndrome Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Embryofetopathy caused by indomethacin (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Embryopathy caused by phenobarbital (disorder) Is a False Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Facio-auriculo-vertebral spectrum (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Schisis association syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Madelung's deformity Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Is a True Congenital malformation syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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