721887007: Puerto Rican infant hypotonia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Poor muscle tone\Qazi Markouizos syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome

\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\Qazi Markouizos syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome

\Muscle finding\Muscle tone - finding\Poor muscle tone\Qazi Markouizos syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome

\Musculoskeletal finding\Poor muscle tone\Qazi Markouizos syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Qazi Markouizos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Qazi Markouizos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Qazi Markouizos syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Qazi Markouizos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Qazi Markouizos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Qazi Markouizos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Qazi Markouizos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Qazi Markouizos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Qazi Markouizos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Qazi Markouizos syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3319838014 Puerto Rican infant hypotonia syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3319840016 Dysharmonic skeletal maturation and muscular fiber disproportion syndrome en Synonym Active Case insensitive SNOMED CT core

3319841017 Dysharmonic skeletal maturation and muscular fibre disproportion syndrome en Synonym Active Case insensitive SNOMED CT core

3326459012 Puerto Rican infant hypotonia syndrome en Synonym Active Case sensitive SNOMED CT core

3326460019 Qazi Markouizos syndrome en Synonym Active Case sensitive SNOMED CT core

3326461015 This syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. en Definition Active Case sensitive SNOMED CT core

3326462010 This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Qazi Markouizos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Qazi Markouizos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Qazi Markouizos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Qazi Markouizos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Qazi Markouizos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Qazi Markouizos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Qazi Markouizos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Qazi Markouizos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Qazi Markouizos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Qazi Markouizos syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Qazi Markouizos syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Qazi Markouizos syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Qazi Markouizos syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Qazi Markouizos syndrome	Is a	Poor muscle tone	true	Inferred relationship	Some
Qazi Markouizos syndrome	Interprets	Muscle tone	true	Inferred relationship	Some	4
Qazi Markouizos syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Qazi Markouizos syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Qazi Markouizos syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Qazi Markouizos syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Qazi Markouizos syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Qazi Markouizos syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Qazi Markouizos syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Qazi Markouizos syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	6
Qazi Markouizos syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3319838014	Puerto Rican infant hypotonia syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3319840016	Dysharmonic skeletal maturation and muscular fiber disproportion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3319841017	Dysharmonic skeletal maturation and muscular fibre disproportion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326459012	Puerto Rican infant hypotonia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326460019	Qazi Markouizos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326461015	This syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	en	Definition	Active	Case sensitive	SNOMED CT core
3326462010	This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	en	Definition	Active	Case sensitive	SNOMED CT core