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719379001: Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316147015 Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316150017 Ellis Yale Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402077015 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402078013 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterised by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316147015 Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316147015 Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316150017 Ellis Yale Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316151018 A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402077015 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402078013 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterised by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430141001000117 Mikrozephalie - Herzfehler - Lungenfehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480201000241118 syndrome de microcéphalie et cardiopathie avec malsegmentation pulmonaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480201000241118 syndrome de microcéphalie et cardiopathie avec malsegmentation pulmonaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430141001000117 Mikrozephalie - Herzfehler - Lungenfehlbildung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital anomaly of lung true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Lung structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Lung structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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