719395001: Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Finding of general physiological development\Disorder of stature\Short stature disorder\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

\Disease\Genetic disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\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\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type

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

Descriptions:

Id Description Lang Type Status Case? Module

3316198014 Microcephaly faciocardioskeletal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3316199018 Hadziselimovic syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3316201016 Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3316202011 Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Congenital heart disease	true	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Heart structure	false	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	5
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	7
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	7
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier	2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	5
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	6
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	6
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3316198014	Microcephaly faciocardioskeletal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316199018	Hadziselimovic syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3316201016	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3316202011	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module