717771007: syndroom van craniosynostose met multipele congenitale afwijkingen (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Head finding (finding)\Finding of head region\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Genetic disease\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Complex craniosynostosis\Cloverleaf skull syndrome\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cloverleaf skull with multiple congenital anomalies 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
3310437018	Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310439015	Cloverleaf skull with multiple congenital anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6996991000146118	syndroom van craniosynostose met multipele congenitale afwijkingen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6997001000146111	syndroom van klaverbladschedel met multipele congenitale afwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6997011000146113	syndroom van craniosynostose met multipele congenitale afwijkingen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3310440018	This syndrome has characteristics of cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. It has been described in three siblings from one family. Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanelle and short philtrum, down turning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor.	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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