778026007: Lethal polymalformative syndrome Boissel type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal polymalformative syndrome Boissel type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal polymalformative syndrome Boissel type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Developmental disorder\Developmental hereditary disorder\Lethal polymalformative syndrome Boissel type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Lethal polymalformative syndrome Boissel type
• \Disease\Developmental disorder\Developmental delay\Lethal polymalformative syndrome Boissel type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737304017	Lethal polymalformative syndrome Boissel type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3737305016	Lethal polymalformative syndrome Boissel type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3737307012	A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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