763318007: Connective tissue disorder due to lysyl hydroxylase-3 deficiency (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\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638529013	Bone fragillity, contractures, arterial rupture, deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638530015	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638531016	Bone fragility, contractures, arterial rupture, deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638532011	Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3638533018	Connective tissue disorder due to LH3 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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