721887007: Puerto Rican infant hypotonia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Poor muscle tone (finding)\Puerto Rican infant hypotonia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Puerto Rican infant hypotonia syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\Poor muscle tone (finding)\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \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 (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Puerto Rican infant hypotonia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Puerto Rican infant hypotonia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3319840016	Dysharmonic skeletal maturation and muscular fiber disproportion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3319841017	Dysharmonic skeletal maturation and muscular fibre disproportion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326459012	Puerto Rican infant hypotonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326460019	Qazi Markouizos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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