1187113001: Mucopolysaccharidosis-like plus disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease

\Finding of head and neck region\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\Mucopolysaccharidosis-like plus disease

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease

\Respiratory finding\Disorder of respiratory system (disorder)\Mucopolysaccharidosis-like plus disease

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mucopolysaccharidosis-like plus disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Developmental hereditary disorder\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Mucopolysaccharidosis-like plus disease
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Mucopolysaccharidosis-like plus disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4669910015 Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669911016 Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669914012 Mucopolysaccharidosis-like plus disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669915013 Mucopolysaccharidosis-like plus disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4669921012 A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669922017 A rare genetic disease characterised by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, haematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14268561000172116 maladie mucopolysaccharidose-like avec cardiopathie congénitale et atteintes hématopoïétiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7373261000172117 mucopolysacharidoseachtig syndroom met congenitaal hartdefect en hematopoëtische aandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7373271000172114 mucopolysaccharidosis-like plus disease nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis-like plus disease	Is a	Congenital heart disease	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Global developmental delay	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Dysostosis multiplex group	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Disorder of hematopoietic structure (disorder)	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Disorder of respiratory system (disorder)	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Finding site	Structure of respiratory system (body structure)	true	Inferred relationship	Some	4
Mucopolysaccharidosis-like plus disease	Finding site	Hematopoietic system structure	true	Inferred relationship	Some	5
Mucopolysaccharidosis-like plus disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis-like plus disease	Finding site	Bone structure	true	Inferred relationship	Some	1
Mucopolysaccharidosis-like plus disease	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mucopolysaccharidosis-like plus disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mucopolysaccharidosis-like plus disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Mucopolysaccharidosis-like plus disease	Finding site	Heart structure	true	Inferred relationship	Some	2
Mucopolysaccharidosis-like plus disease	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Mucopolysaccharidosis-like plus disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Mucopolysaccharidosis-like plus disease	Occurrence	Congenital	true	Inferred relationship	Some	3
Mucopolysaccharidosis-like plus disease	Finding site	Face structure	true	Inferred relationship	Some	3
Mucopolysaccharidosis-like plus disease	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Mucopolysaccharidosis-like plus disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Mucopolysaccharidosis-like plus disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4669910015	Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669911016	Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669914012	Mucopolysaccharidosis-like plus disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669915013	Mucopolysaccharidosis-like plus disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669921012	A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669922017	A rare genetic disease characterised by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, haematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14268561000172116	maladie mucopolysaccharidose-like avec cardiopathie congénitale et atteintes hématopoïétiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7373261000172117	mucopolysacharidoseachtig syndroom met congenitaal hartdefect en hematopoëtische aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7373271000172114	mucopolysaccharidosis-like plus disease	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)