721887007: Puerto Rican infant hypotonia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Poor muscle tone\Puerto Rican infant hypotonia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia 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\Puerto Rican infant hypotonia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome

\Muscle finding\Finding of muscle tone\Poor muscle tone\Puerto Rican infant hypotonia syndrome
\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome

\Musculoskeletal finding\Poor muscle tone\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3319838014 Puerto Rican infant hypotonia syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3319840016 Dysharmonic skeletal maturation and muscular fiber disproportion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3319841017 Dysharmonic skeletal maturation and muscular fibre disproportion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3326459012 Puerto Rican infant hypotonia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3326460019 Qazi Markouizos syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3319838014	Puerto Rican infant hypotonia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3319840016	Dysharmonic skeletal maturation and muscular fiber disproportion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3319841017	Dysharmonic skeletal maturation and muscular fibre disproportion syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3326459012	Puerto Rican infant hypotonia syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3326460019	Qazi Markouizos syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module