722458000: Matthew Wood syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Matthew Wood syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Matthew Wood syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Matthew Wood syndrome

\Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Respiratory finding\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Matthew Wood syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Matthew Wood syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Matthew Wood syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Matthew Wood syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Matthew Wood syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Disorder of body system\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Matthew Wood syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Matthew Wood syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Matthew Wood syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Matthew Wood syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Matthew Wood syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Matthew Wood syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332221010 Anophthalmia with pulmonary hypoplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3332222015 Matthew Wood syndrome en Synonym Active Case sensitive SNOMED CT core

3332223013 Syndromic microphthalmia type 9 en Synonym Active Case insensitive SNOMED CT core

3332225018 Matthew Wood syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3332224019 A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Matthew Wood syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Matthew Wood syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Matthew Wood syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Matthew Wood syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Matthew Wood syndrome	Finding site	Eye structure	true	Inferred relationship	Some	1
Matthew Wood syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Matthew Wood syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Matthew Wood syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Matthew Wood syndrome	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Matthew Wood syndrome	Is a	Congenital anomaly of lung	true	Inferred relationship	Some
Matthew Wood syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Matthew Wood syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Matthew Wood syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Matthew Wood syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Matthew Wood syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Matthew Wood syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Matthew Wood syndrome	Finding site	Lung structure	true	Inferred relationship	Some	2
Matthew Wood syndrome	Finding site	Eye structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332221010	Anophthalmia with pulmonary hypoplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332222015	Matthew Wood syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332223013	Syndromic microphthalmia type 9	en	Synonym	Active	Case insensitive	SNOMED CT core
3332225018	Matthew Wood syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3332224019	A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.	en	Definition	Active	Case sensitive	SNOMED CT core