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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Connective tissue disorder due to lysyl hydroxylase-3 deficiency
• \Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638529013	Bone fragillity, contractures, arterial rupture, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638530015	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3638531016	Bone fragility, contractures, arterial rupture, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638532011	Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638533018	Connective tissue disorder due to LH3 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3638535013	A rare genetic disease caused by lack of lysyl hydroxylase-3 (LH3) activity with characteristics of multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. The disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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