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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation 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 heart disease\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Lung finding\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation 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\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome

\Respiratory finding\Lower respiratory tract finding\Lung finding\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Respiratory finding\Lower respiratory tract finding\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Respiratory finding\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Respiratory finding\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Respiratory disease\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Respiratory disease\Disorder of lower respiratory system\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Pulmonary disease\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the respiratory system\Congenital anomaly of lower respiratory system\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of lung\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephaly with cardiac defect and lung malsegmentation syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym Active Case insensitive SNOMED CT core

3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym Active Case insensitive SNOMED CT core

3316150017 Ellis Yale Winter syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Lung structure	true	Inferred relationship	Some	2
Microcephaly with cardiac defect and lung malsegmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly with cardiac defect and lung malsegmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly with cardiac defect and lung malsegmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly with cardiac defect and lung malsegmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly with cardiac defect and lung malsegmentation syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	1
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Structure of head	true	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Congenital anomaly of lung	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Microcephaly with cardiac defect and lung malsegmentation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Microcephaly with cardiac defect and lung malsegmentation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Brain structure	false	Inferred relationship	Some	5
Microcephaly with cardiac defect and lung malsegmentation syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Lung structure	false	Inferred relationship	Some	4
Microcephaly with cardiac defect and lung malsegmentation syndrome	Finding site	Structure of heart	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

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316147015	Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316148013	Microcephalus with cardiac defect and lung malsegmentation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316149017	Microcephaly with cardiac defect and lung malsegmentation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316150017	Ellis Yale Winter syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core