248298009: Marfanoid physique (finding)

SNOMED CT Concept\Clinical finding (finding)\Finding of general observation of appearance\Physique finding\Marfanoid physique

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

370676016 Marfanoid physique en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

638582013 Marfanoid physique (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

912371000195116 fisico con sindrome di Marfan it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

563181000172112 physique marfanoïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marfanoid physique	Is a	Physique finding	true	Inferred relationship	Some
Marfanoid physique	Interprets	Physique type	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Is a	True	Marfanoid physique	Inferred relationship	Some
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	Is a	True	Marfanoid physique	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.	Is a	True	Marfanoid physique	Inferred relationship	Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992.	Is a	True	Marfanoid physique	Inferred relationship	Some
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.	Is a	True	Marfanoid physique	Inferred relationship	Some
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).	Is a	True	Marfanoid physique	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	True	Marfanoid physique	Inferred relationship	Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	True	Marfanoid physique	Inferred relationship	Some

This concept is not in any reference sets