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\Cardiovascular 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
• \Cardiovascular finding\Cardiovascular disease\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\Cardiovascular 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\Disorder of body system\Cardiovascular disease\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316198014	Microcephaly faciocardioskeletal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316199018	Hadziselimovic syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316201016	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3316202011	Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3316200015	A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	en	Definition	Inactive	Case sensitive	SNOMED CT core
4304325011	A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	en	Definition	Inactive	Case sensitive	SNOMED CT core
4553898019	A rare syndrome with characteristics of pre-natal onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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